ATP-binding cassette sub-family G member 8 (UniProt: Q9DBM0, also known as Sterolin-2, ABCG8) is encoded by the Abcg8 gene (Gene ID: 67470) in murine species. ABCG8 is a multi-pass membrane protein that forms an obligate heterodimer with ABCG5 to mediate Mg2+ and ATP-dependent sterol transport across the cell membrane. It is required for normal sterol homeostasis and plays an essential role in the selective transport of the dietary cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile. ABCG8 and ABCG5 are primarily expressed in enterocytes and hepatocytes and their levels are up-regulated upon cholesterol feeding. They are shown to heterodimerize in the endoplasmic reticulum prior to being transported to apical membranes. Their ATPase catalytic domain is located N-terminal to the transmembrane domain. ABCG8 has an ABC transporter domain (aa 48-314) and a ABC transporter type-2 domain (aa 411-665). Two isoforms of ABCG8 have been described that are produced by alternative splicing. Inactivating mutations in either G5 or G8 are reported to cause sitosterolemia, a rare autosomal-recessive disorder characterized by hypercholesterolemia, phytosterolemia, and premature coronary artery disease. (Ref.: Graf, GA., et al. (2003). J. Biol. Chem. 278(48); 48275-48282.
Synonyms: ATP-binding cassette sub-family G member 8, Sterolin-2
Application: Research CategorySignaling
Other Notes: Concentration: Please refer to lot specific datasheet.